نتائج البحث

A Bayesian method to estimate variant-induced disease penetrance.

• Authors : Kroncke BM; Department of Medicine Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.; Vanderbilt Center for Arrhythmia Research and Therapeutics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.

Subjects: Models, Genetic* ; Penetrance* ; Polymorphism, Single Nucleotide*

• Source: PLoS genetics [PLoS Genet] 2020 Jun 22; Vol. 16 (6), pp. e1008862. Date of Electronic Publication: 2020 Jun 22 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

تفاصيل العنوان

Reduced sister chromatid cohesion acts as a tumor penetrance modifier.

• Authors : Wang, Jun¹ (AUTHOR); Thomas, Holly R.¹ (AUTHOR); Chen, Yu^2,3 (AUTHOR)

• Source: PLoS Genetics. 8/22/2022, Vol. 18 Issue 8, p1-25. 25p.

تفاصيل العنوان

Reduced sister chromatid cohesion acts as a tumor penetrance modifier.

• Authors : Jun Wang; Holly R Thomas; Yu Chen

Subjects: Genetics; QH426-470

• Source: PLoS Genetics, Vol 18, Iss 8, p e1010341 (2022)

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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

• Authors : Caporali L; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Iommarini L

Subjects: Multifactorial Inheritance* ; Mutation, Missense* ; Penetrance*

• Source: PLoS genetics [PLoS Genet] 2018 Feb 14; Vol. 14 (2), pp. e1007210. Date of Electronic Publication: 2018 Feb 14 (Print Publication: 2018).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway.

• Authors : Sucharov, Juliana¹ (AUTHOR); Ray, Kuval¹ (AUTHOR); Brooks, Elliott P.¹ (AUTHOR)

• Source: PLoS Genetics. 12/2/2019, Vol. 15 Issue 12, p1-32. 32p.

تفاصيل العنوان

A Bayesian method to estimate variant-induced disease penetrance.

• Authors : Brett M Kroncke; Derek K Smith; Yi Zuo

Subjects: Genetics; QH426-470

• Source: PLoS Genetics, Vol 16, Iss 6, p e1008862 (2020)

تفاصيل العنوان

Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway.

• Authors : Juliana Sucharov; Kuval Ray; Elliott P Brooks

Subjects: Genetics; QH426-470

• Source: PLoS Genetics, Vol 15, Iss 12, p e1008507 (2019)

تفاصيل العنوان

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

• Authors : Venturini G; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Rose AM

Subjects: Penetrance* ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/metabolism

• Source: PLoS genetics [PLoS Genet] 2012; Vol. 8 (11), pp. e1003040. Date of Electronic Publication: 2012 Nov 08.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet

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Incompatibilities involving yeast mismatch repair genes: a role for genetic modifiers and implications for disease penetrance and variation in genomic mutation rates.

• Authors : Demogines A; Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, United States of America.; Wong A

Subjects: DNA Mismatch Repair* ; Genetic Variation* ; Mutation*

• Source: PLoS genetics [PLoS Genet] 2008 Jun 20; Vol. 4 (6), pp. e1000103. Date of Electronic Publication: 2008 Jun 20.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Electronic Cited Medium: Internet

تفاصيل العنوان

A Bayesian method to estimate variant-induced disease penetrance

• Authors : Dan M. Roden; Derek K. Smith; Yi Zuo

Subjects: Cancer Research; Physiology; Datasets as Topic

• Source: PLoS GeneticsPLoS Genetics, Vol 16, Iss 6, p e1008862 (2020)

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